ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_14400 | This variant affects the gene FGF8 (fibroblast growth factor 8) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypogonadotropic hypogonadism 6 with or without anosmia | CTTAGGGCCTCCAGCTCCTATCCTGCTGTGGGGCAGGGACTAGGGAAGGCGGGAAACCTCTTATATGGCCACGGAGAGAAGTGGACATCAGGCTTCCTCTGATGTCTGAAGATGAATTCCCCCACACCAGCTTGACTTCTGCTTCCCTCCCCGAAATCCAAGGATGCTGGGCCATTTGCTCTGACAGAGCAAACCCTGGAAGAGCCAGGCATTCGTCTCCTCTCCTTAGAAGCTGAGAAGGGCAGCAAGCAGCTAATTTGGAGGGACAAAGGGATGGTAGGCCTGCTCTGCCAGCCCAGTAGGGGAGCTCGGCCACCAGG... | CTTAGGGCCTCCAGCTCCTATCCTGCTGTGGGGCAGGGACTAGGGAAGGCGGGAAACCTCTTATATGGCCACGGAGAGAAGTGGACATCAGGCTTCCTCTGATGTCTGAAGATGAATTCCCCCACACCAGCTTGACTTCTGCTTCCCTCCCCGAAATCCAAGGATGCTGGGCCATTTGCTCTGACAGAGCAAACCCTGGAAGAGCCAGGCATTCGTCTCCTCTCCTTAGAAGCTGAGAAGGGCAGCAAGCAGCTAATTTGGAGGGACAAAGGGATGGTAGGCCTGCTCTGCCAGCCCAGTAGGGGAGCTCGGCCACCAGG... |
Task1_train_14401 | This variant lies on Chromosome 10 and affects the gene FGF8 (fibroblast growth factor 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypogonadotropic hypogonadism 6 with or without anosmia | CAGGAAATGTTAAAAAAGGTGAAAGTAAGAAGAGTTTTAATCGCTCTGCCAGACGCAGGGGTCTCTCCAGAGATTCAGAGAGAACAATCTTGAACCTCTTTTTTAACATTTACAGACTTGCAACTCCTTTCAAACTCCACATCTGAAAAAAAGCTCGTTCTTTTTCTGTTTTATATCATTCTTCATTTTTCTTCTTAGCTCTTAAAATGCCTCACCTTTTTATTACATTTTAATAGAGTCTTCCCCTCTCCTTTCATGCTTGTTTAACGTGGTCATTATTTAAAGGTTTTTAAACTCACAATAATCGCTCTCTAAAAACA... | CAGGAAATGTTAAAAAAGGTGAAAGTAAGAAGAGTTTTAATCGCTCTGCCAGACGCAGGGGTCTCTCCAGAGATTCAGAGAGAACAATCTTGAACCTCTTTTTTAACATTTACAGACTTGCAACTCCTTTCAAACTCCACATCTGAAAAAAAGCTCGTTCTTTTTCTGTTTTATATCATTCTTCATTTTTCTTCTTAGCTCTTAAAATGCCTCACCTTTTTATTACATTTTAATAGAGTCTTCCCCTCTCCTTTCATGCTTGTTTAACGTGGTCATTATTTAAAGGTTTTTAAACTCACAATAATCGCTCTCTAAAAACA... |
Task1_train_14402 | With a mutation on Chromosome 10 in gene GBF1, PITX3 (golgi brefeldin A resistant guanine nucleotide exchange factor 1| paired like homeodomain 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CCCCCGCACGCACGCACCTCTTTGCTGCAGGAATCCCGGGCTGCCCCGACCTGGAGTAGGGGGGGTGGTGAGTGGGACTGAGTCCCTAGAAGCCTGGACCCTCACTTCGTTCCTGTACATCCAGCTCGCCTGTAGACAGTGGGGGAGGATGAAGGGAAGAGGACTCAAGCGCAACTTTGAATCATCACGCCTTCGACAGTCCGCGCACGTTTATTTCATTTATCTTTGAAAACGAGGGAGGGGAAGCCTGGAGAAGGCGGGATGGGCCAAGGGTGAGTTGGCCCCCGGGGAGCTGGTCCCTGTTCCTGGCTTTAGTCCCA... | CCCCCGCACGCACGCACCTCTTTGCTGCAGGAATCCCGGGCTGCCCCGACCTGGAGTAGGGGGGGTGGTGAGTGGGACTGAGTCCCTAGAAGCCTGGACCCTCACTTCGTTCCTGTACATCCAGCTCGCCTGTAGACAGTGGGGGAGGATGAAGGGAAGAGGACTCAAGCGCAACTTTGAATCATCACGCCTTCGACAGTCCGCGCACGTTTATTTCATTTATCTTTGAAAACGAGGGAGGGGAAGCCTGGAGAAGGCGGGATGGGCCAAGGGTGAGTTGGCCCCCGGGGAGCTGGTCCCTGTTCCTGGCTTTAGTCCCA... |
Task1_train_14403 | Here is a mutation in NFKB2 (nuclear factor kappa B subunit 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Immunodeficiency, common variable, 10 | TGGGAGGGGTTGGAAGGCAAGTGGGTCTCGGGCCTGGCTCACCCTGCTTTCATCCCCAGACGCCCCTGCACCTGGCGGTGATCACGGGGCAGACGAGTGTGGTGAGCTTTCTGCTGCGGGTAGGTGCAGACCCAGCTCTGCTGGATCGGCATGGAGACTCAGCCATGCATCTGGCGCTGCGGGCAGGCGCTGGTGCTCCTGAGCTGCTGCGTGCACTGCTTCAGAGTGGAGCTCCTGCTGTGCCCCAGCTGTTGCATATGCCTGACTTTGAGGGTGAGCTCCCCATCTCACCTGACTAAGGGGGCAGGCGGGGACCAGGG... | TGGGAGGGGTTGGAAGGCAAGTGGGTCTCGGGCCTGGCTCACCCTGCTTTCATCCCCAGACGCCCCTGCACCTGGCGGTGATCACGGGGCAGACGAGTGTGGTGAGCTTTCTGCTGCGGGTAGGTGCAGACCCAGCTCTGCTGGATCGGCATGGAGACTCAGCCATGCATCTGGCGCTGCGGGCAGGCGCTGGTGCTCCTGAGCTGCTGCGTGCACTGCTTCAGAGTGGAGCTCCTGCTGTGCCCCAGCTGTTGCATATGCCTGACTTTGAGGGTGAGCTCCCCATCTCACCTGACTAAGGGGGCAGGCGGGGACCAGGG... |
Task1_train_14404 | This alteration occurs within gene LOC130004614, SUFU (ATAC-STARR-seq lymphoblastoid silent region 2764| SUFU negative regulator of hedgehog signaling) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGG... | CAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGG... |
Task1_train_14405 | This mutation occurs in SUFU (SUFU negative regulator of hedgehog signaling) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Joubert syndrome 32 | GGTTTCATAGAATGAATTAGAAATTATTTCTTTTATTTTTTGGAAGAGTTTGCGAAAAGTTGATATTAATTCTTCTCTAAATCTTTGGCAGAATTTACCAGTGGAGTCATCTGGTGGACCTGGACTGTTTGTATTGTGTATGTTGTTGGTGGGGGTTAATTACTTATTCATTCCTTTTACCTGTTGCATTGTTTCTTGCTTGCAGAACATGCAGGTTGCTTGTAGAAACACACTTACGTAAAAGGAGAGAGATTCTGGGAAGAGTGGGCCTAGCAGGAATTTGGAAATTTAGGGGTTTCTAGTTGGCTCTACCTGAAGCT... | GGTTTCATAGAATGAATTAGAAATTATTTCTTTTATTTTTTGGAAGAGTTTGCGAAAAGTTGATATTAATTCTTCTCTAAATCTTTGGCAGAATTTACCAGTGGAGTCATCTGGTGGACCTGGACTGTTTGTATTGTGTATGTTGTTGGTGGGGGTTAATTACTTATTCATTCCTTTTACCTGTTGCATTGTTTCTTGCTTGCAGAACATGCAGGTTGCTTGTAGAAACACACTTACGTAAAAGGAGAGAGATTCTGGGAAGAGTGGGCCTAGCAGGAATTTGGAAATTTAGGGGTTTCTAGTTGGCTCTACCTGAAGCT... |
Task1_train_14406 | A variant on Chromosome 10 in gene ARL3 (ARF like GTPase 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GGGGGTTGGGAAGAAAATGACAGGAGATCCCTCTCTACCTCCAGGCTTCTCTGAAGCAGTGTCCTTGACTTTAAATGCCACGGCTCTAAATACTGATTCTAGATTACTCTAGTTCTCCTTTTTCACATCGCTAAGGCTGGTGGAAGATACAAGAGGCTTACTGTTAATTCTCGCTTTGCTTTTTCTTCAACACTCTGGTCAAGCAAAAGAAAGATTCCAGAGCTGTACTTGCACTTTCTTACGAATATGCACACAAACTATATTGCTTTTCTTCAGCCCCACCTTCATAATAGCCCCCAACCTCAAGATGCTCTCAGCTT... | GGGGGTTGGGAAGAAAATGACAGGAGATCCCTCTCTACCTCCAGGCTTCTCTGAAGCAGTGTCCTTGACTTTAAATGCCACGGCTCTAAATACTGATTCTAGATTACTCTAGTTCTCCTTTTTCACATCGCTAAGGCTGGTGGAAGATACAAGAGGCTTACTGTTAATTCTCGCTTTGCTTTTTCTTCAACACTCTGGTCAAGCAAAAGAAAGATTCCAGAGCTGTACTTGCACTTTCTTACGAATATGCACACAAACTATATTGCTTTTCTTCAGCCCCACCTTCATAATAGCCCCCAACCTCAAGATGCTCTCAGCTT... |
Task1_train_14407 | This sequence variant lies in ARL3 (ARF like GTPase 3) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | ACAAGAAGTGGTTTGAGATTCAAAACTTACCCAAGGTTATTACCTGCAAATAACTTTCAATGCGTGTGTGTGTGTGTATGTGTGTGTGTGTATGAAATTTAAACTGAAAATGACAATTACTTTAGAGATAATTCTGTTTCATCAATCTCTATCTCTAAAACATGCATGCACATGCTTCACATTTCATCAAACCTACATCCTAAAATAACTTTATTGGTCCATCTGGCAAGGTCCCTGATATTTAGGTTATAGGTTGGGGTCTAAACTATATGTGATTTTGTTTACAAAAACTATAGGAAAGGGTGTATATGTACTTAAAT... | ACAAGAAGTGGTTTGAGATTCAAAACTTACCCAAGGTTATTACCTGCAAATAACTTTCAATGCGTGTGTGTGTGTGTATGTGTGTGTGTGTATGAAATTTAAACTGAAAATGACAATTACTTTAGAGATAATTCTGTTTCATCAATCTCTATCTCTAAAACATGCATGCACATGCTTCACATTTCATCAAACCTACATCCTAAAATAACTTTATTGGTCCATCTGGCAAGGTCCCTGATATTTAGGTTATAGGTTGGGGTCTAAACTATATGTGATTTTGTTTACAAAAACTATAGGAAAGGGTGTATATGTACTTAAAT... |
Task1_train_14408 | The following genetic variant occurs in CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial | TCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGA... | TCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGA... |
Task1_train_14409 | This mutation is located in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital adrenal hyperplasia | CACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACA... | CACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACA... |
Task1_train_14410 | This variant affects gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | CACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACA... | CACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACA... |
Task1_train_14411 | Consider a variant on Chromosome 10 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1). Determine its clinical classification and disease relevance. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | CCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACAC... | CCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACAC... |
Task1_train_14412 | A sequence alteration has been identified in CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | AGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACACACACACACACACACAAACAAACA... | AGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACACACACACACACACACAAACAAACA... |
Task1_train_14413 | This variant affects gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | TTGAGCTTAGGAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGG... | TTGAGCTTAGGAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGG... |
Task1_train_14414 | A variant was discovered on Chromosome 10, affecting CYP17A1 (cytochrome P450 family 17 subfamily A member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | GAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGG... | GAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGG... |
Task1_train_14415 | With a mutation on Chromosome 10 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | AAAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAG... | AAAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAG... |
Task1_train_14416 | A variant has been detected on Chromosome 10 in CYP17A1 (cytochrome P450 family 17 subfamily A member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | AAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGG... | AAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGG... |
Task1_train_14417 | The variant affects gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | ACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAG... | ACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAG... |
Task1_train_14418 | This genomic variant is located on Chromosome 10, within the CYP17A1 (cytochrome P450 family 17 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CYP17A1-related disorder | CTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGG... | CTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGG... |
Task1_train_14419 | Given this variant in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital adrenal hyperplasia | CTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGG... | CTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGG... |
Task1_train_14420 | This genomic variant is located on Chromosome 10, within the CYP17A1 (cytochrome P450 family 17 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | CTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGG... | CTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGG... |
Task1_train_14421 | A mutation in CYP17A1 (cytochrome P450 family 17 subfamily A member 1), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | CACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTG... | CACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTG... |
Task1_train_14422 | Gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCA... | AGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCA... |
Task1_train_14423 | Consider a variant on Chromosome 10 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1). Determine its clinical classification and disease relevance. | Pathogenic; 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | AATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAG... | AATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAG... |
Task1_train_14424 | A mutation in CYP17A1 (cytochrome P450 family 17 subfamily A member 1), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | CTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATC... | CTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATC... |
Task1_train_14425 | A variant on Chromosome 10 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not specified | CTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATC... | CTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATC... |
Task1_train_14426 | This variant impacts the gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | AGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCA... | AGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCA... |
Task1_train_14427 | Consider this mutation in CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | GCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAG... | GCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAG... |
Task1_train_14428 | Given this context: Chromosome 10, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial | AACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTG... | AACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTG... |
Task1_train_14429 | A variant affecting Chromosome 10, within the gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | CTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCT... | CTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCT... |
Task1_train_14430 | This gene mutation involves CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | AGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACA... | AGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACA... |
Task1_train_14431 | A variant on Chromosome 10 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital adrenal hyperplasia | GGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAG... | GGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAG... |
Task1_train_14432 | A sequence alteration has been identified in CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | GGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAG... | GGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAG... |
Task1_train_14433 | A variant on Chromosome 10 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital adrenal hyperplasia | GGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGC... | GGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGC... |
Task1_train_14434 | The gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Deficiency of steroid 17-alpha-monooxygenase | GGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGC... | GGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGC... |
Task1_train_14435 | Located on Chromosome 10, this mutation impacts CYP17A1 (cytochrome P450 family 17 subfamily A member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | GGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGA... | GGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGA... |
Task1_train_14436 | A change on Chromosome 10 affects gene CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 1 | TTGTAGGTCCTTTGGCTTTCTCTAGGATGAGATGGGAAGCCAATGGAGGCGTTTCAGCCAAGGGAGCAACAGAATCTCATGGACAAGATCACTTGCTGCTGGGTTGAGAAGGGAAAGGAACAGGTATCGAAGAGGAAAGATCAGTTAGGAGGCCACTGCAATCATTCCAGAAATTACTCATACCAGAAATTAATCAGAGACGTTTGATGCATTTACAAAAGCGGTGGTAGGGGGGCGCGGGATGTGCTTGTAGAATACAAAAGAGGTAGAGAAACATTAAACATTTTGAATGTTTTAAGTTTCTTTTTTTTCTTTTTTTT... | TTGTAGGTCCTTTGGCTTTCTCTAGGATGAGATGGGAAGCCAATGGAGGCGTTTCAGCCAAGGGAGCAACAGAATCTCATGGACAAGATCACTTGCTGCTGGGTTGAGAAGGGAAAGGAACAGGTATCGAAGAGGAAAGATCAGTTAGGAGGCCACTGCAATCATTCCAGAAATTACTCATACCAGAAATTAATCAGAGACGTTTGATGCATTTACAAAAGCGGTGGTAGGGGGGCGCGGGATGTGCTTGTAGAATACAAAAGAGGTAGAGAAACATTAAACATTTTGAATGTTTTAAGTTTCTTTTTTTTCTTTTTTTT... |
Task1_train_14437 | A genomic change on Chromosome 10 affects CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 1 | CGGTGGTAGGGGGGCGCGGGATGTGCTTGTAGAATACAAAAGAGGTAGAGAAACATTAAACATTTTGAATGTTTTAAGTTTCTTTTTTTTCTTTTTTTTTTTTTGATACGGAGTCTCCCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTACGATCTCCTGACCTCATGCTCCGC... | CGGTGGTAGGGGGGCGCGGGATGTGCTTGTAGAATACAAAAGAGGTAGAGAAACATTAAACATTTTGAATGTTTTAAGTTTCTTTTTTTTCTTTTTTTTTTTTTGATACGGAGTCTCCCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTACGATCTCCTGACCTCATGCTCCGC... |
Task1_train_14438 | A change on Chromosome 10 affects gene CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 1 | AATACAGATTCGGGGCCCTTCCCACTCTGTAAATATGGGAAAAGGTCTAGGAAGTATATACTCCTAGCAATAATATGTAGGGGTTCTATGACTAGGAAATTTGGGGAACTGTCCCCCTGACCGCTCCATCCGTAACTTCTGCACACCTTTTGGGGTACGCCGCCGACCTGGAAAGCGTTGCAGGGCGCTCATGCTGCCCGCAGGTGGCGCCACGTGATCGCGAGCCGCAGAGAGCCCGTACCCTAGGAGTCTCGAGGCGCGAGGACTGCTGGTCCGCAGCTGTGCCGGGGCCACCGACGCCGCTTACCCCGGCGGAGCGC... | AATACAGATTCGGGGCCCTTCCCACTCTGTAAATATGGGAAAAGGTCTAGGAAGTATATACTCCTAGCAATAATATGTAGGGGTTCTATGACTAGGAAATTTGGGGAACTGTCCCCCTGACCGCTCCATCCGTAACTTCTGCACACCTTTTGGGGTACGCCGCCGACCTGGAAAGCGTTGCAGGGCGCTCATGCTGCCCGCAGGTGGCGCCACGTGATCGCGAGCCGCAGAGAGCCCGTACCCTAGGAGTCTCGAGGCGCGAGGACTGCTGGTCCGCAGCTGTGCCGGGGCCACCGACGCCGCTTACCCCGGCGGAGCGC... |
Task1_train_14439 | Gene CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TTTGGGGAACTGTCCCCCTGACCGCTCCATCCGTAACTTCTGCACACCTTTTGGGGTACGCCGCCGACCTGGAAAGCGTTGCAGGGCGCTCATGCTGCCCGCAGGTGGCGCCACGTGATCGCGAGCCGCAGAGAGCCCGTACCCTAGGAGTCTCGAGGCGCGAGGACTGCTGGTCCGCAGCTGTGCCGGGGCCACCGACGCCGCTTACCCCGGCGGAGCGCCGCGCAGGTGGAGTTGGGGACAGCGGCCGGTGCCCCGGCTTTTTAGGCTGTGTGCATCCCAAGCCGCCTCTAGTTGGCTTCTCGGGCTTCCGGGGCAGG... | TTTGGGGAACTGTCCCCCTGACCGCTCCATCCGTAACTTCTGCACACCTTTTGGGGTACGCCGCCGACCTGGAAAGCGTTGCAGGGCGCTCATGCTGCCCGCAGGTGGCGCCACGTGATCGCGAGCCGCAGAGAGCCCGTACCCTAGGAGTCTCGAGGCGCGAGGACTGCTGGTCCGCAGCTGTGCCGGGGCCACCGACGCCGCTTACCCCGGCGGAGCGCCGCGCAGGTGGAGTTGGGGACAGCGGCCGGTGCCCCGGCTTTTTAGGCTGTGTGCATCCCAAGCCGCCTCTAGTTGGCTTCTCGGGCTTCCGGGGCAGG... |
Task1_train_14440 | Here’s a variant in CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypomagnesemia | TTGCAGGGCGCTCATGCTGCCCGCAGGTGGCGCCACGTGATCGCGAGCCGCAGAGAGCCCGTACCCTAGGAGTCTCGAGGCGCGAGGACTGCTGGTCCGCAGCTGTGCCGGGGCCACCGACGCCGCTTACCCCGGCGGAGCGCCGCGCAGGTGGAGTTGGGGACAGCGGCCGGTGCCCCGGCTTTTTAGGCTGTGTGCATCCCAAGCCGCCTCTAGTTGGCTTCTCGGGCTTCCGGGGCAGGAGGGCGCGCGGCTTTGTGCCTACGAATTGAGAACTGGAGAGCCAGTAACCGGTGCACCGGGAACCTGCCGCCTTGCGC... | TTGCAGGGCGCTCATGCTGCCCGCAGGTGGCGCCACGTGATCGCGAGCCGCAGAGAGCCCGTACCCTAGGAGTCTCGAGGCGCGAGGACTGCTGGTCCGCAGCTGTGCCGGGGCCACCGACGCCGCTTACCCCGGCGGAGCGCCGCGCAGGTGGAGTTGGGGACAGCGGCCGGTGCCCCGGCTTTTTAGGCTGTGTGCATCCCAAGCCGCCTCTAGTTGGCTTCTCGGGCTTCCGGGGCAGGAGGGCGCGCGGCTTTGTGCCTACGAATTGAGAACTGGAGAGCCAGTAACCGGTGCACCGGGAACCTGCCGCCTTGCGC... |
Task1_train_14441 | A variant was discovered on Chromosome 10, affecting CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 1 | GCCGGGGCCACCGACGCCGCTTACCCCGGCGGAGCGCCGCGCAGGTGGAGTTGGGGACAGCGGCCGGTGCCCCGGCTTTTTAGGCTGTGTGCATCCCAAGCCGCCTCTAGTTGGCTTCTCGGGCTTCCGGGGCAGGAGGGCGCGCGGCTTTGTGCCTACGAATTGAGAACTGGAGAGCCAGTAACCGGTGCACCGGGAACCTGCCGCCTTGCGCCGCAGGGCTTTAGTCCAAACCTGGCCGGTCCAGGCTCCGGGATCTACTACAGGGGCCCCTGGGGAGCGCGGGCCCCAGGGACGGCTCCTTCCCATTGGCAGCAGGA... | GCCGGGGCCACCGACGCCGCTTACCCCGGCGGAGCGCCGCGCAGGTGGAGTTGGGGACAGCGGCCGGTGCCCCGGCTTTTTAGGCTGTGTGCATCCCAAGCCGCCTCTAGTTGGCTTCTCGGGCTTCCGGGGCAGGAGGGCGCGCGGCTTTGTGCCTACGAATTGAGAACTGGAGAGCCAGTAACCGGTGCACCGGGAACCTGCCGCCTTGCGCCGCAGGGCTTTAGTCCAAACCTGGCCGGTCCAGGCTCCGGGATCTACTACAGGGGCCCCTGGGGAGCGCGGGCCCCAGGGACGGCTCCTTCCCATTGGCAGCAGGA... |
Task1_train_14442 | Mutation context: Chromosome 10, Gene CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Renal hypomagnesemia 6 | TCACTTGGAAAATATTGGTTCACTGAGTTATACAGATCTTCAAAATGTTGACAGATTGCAATATTCAATATTTTTAACAATCGTTTGTTAATATCACCAGCAATCTCATCAGAAAAGTCTTTAATTGTTGAGAAGCTGTTACGCTCGTGGCTACAAGTCTCCCAAAATTTTAATTTTCTTTTCTTTTTTTTCTTTTTTGTTGAGACAGAGTCTCACTTGTTGCCCAGGCTGGAGTGTAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT... | TCACTTGGAAAATATTGGTTCACTGAGTTATACAGATCTTCAAAATGTTGACAGATTGCAATATTCAATATTTTTAACAATCGTTTGTTAATATCACCAGCAATCTCATCAGAAAAGTCTTTAATTGTTGAGAAGCTGTTACGCTCGTGGCTACAAGTCTCCCAAAATTTTAATTTTCTTTTCTTTTTTTTCTTTTTTGTTGAGACAGAGTCTCACTTGTTGCCCAGGCTGGAGTGTAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT... |
Task1_train_14443 | This alteration occurs within gene CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TGAGGCAAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGGGCCAAGATCGCACCACTGCATTCCAGCCTGGGTGACGAGAGGGAGACTGTCTCAAAACAAAACAAAACAAAAGGGTACCCGGTACCATCATCCACATTTTACAGATAAAGAATCTGAAACTTAGCAAAATTGGGTCACCTATTCAAAGATCCATTCTGCTAAATATAAGTCTGATAAATTGTTAATTTGCCTTGTTCTCGTAGAAATGGAAACAAGGGGAACTGCCACTCTGAATTTAATTTGTCTAACAATGGAAAATTAGTTCATGACTTGA... | TGAGGCAAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGGGCCAAGATCGCACCACTGCATTCCAGCCTGGGTGACGAGAGGGAGACTGTCTCAAAACAAAACAAAACAAAAGGGTACCCGGTACCATCATCCACATTTTACAGATAAAGAATCTGAAACTTAGCAAAATTGGGTCACCTATTCAAAGATCCATTCTGCTAAATATAAGTCTGATAAATTGTTAATTTGCCTTGTTCTCGTAGAAATGGAAACAAGGGGAACTGCCACTCTGAATTTAATTTGTCTAACAATGGAAAATTAGTTCATGACTTGA... |
Task1_train_14444 | Given this context: Chromosome 10, gene NT5C2 (5'-nucleotidase, cytosolic II) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary spastic paraplegia 45 | ACTCCCGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGTGCCTGGCCTTGACTTGAGATTCTGAAGTGAATTTATTCACACTGATTGTGCCCTCTACTTTAGTAAGGTTCTGGCTTACAGAGCCCTCTTCCCATCCTCTGATGTTCAATTTTAATATACAGCAATCAACTCTTAGAGGACAAAGAAATCTGGAATTGGGTAGCATGAGCCACAGCTATATAGCCCACACTAATGCATGTTCTGTAGTATAAGAAGGCAGTTCTTCCCTTTCTTTTCTGGGGGCTTGTTC... | ACTCCCGACCTCAGGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGTGCCTGGCCTTGACTTGAGATTCTGAAGTGAATTTATTCACACTGATTGTGCCCTCTACTTTAGTAAGGTTCTGGCTTACAGAGCCCTCTTCCCATCCTCTGATGTTCAATTTTAATATACAGCAATCAACTCTTAGAGGACAAAGAAATCTGGAATTGGGTAGCATGAGCCACAGCTATATAGCCCACACTAATGCATGTTCTGTAGTATAAGAAGGCAGTTCTTCCCTTTCTTTTCTGGGGGCTTGTTC... |
Task1_train_14445 | A variant has been detected on Chromosome 10 in STN1 (STN1 subunit of CST complex). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | ATCTCAGCAGAAGCCAAGTGACAGGGAAGTAGATGAGAGGAGGTAATTATCCATCCAAGATGATTTATTCATCAGCAAAATGATTCGCGAACTTGAACCATGGTTTTTAATGACTTGCTCTGTCTTTTTCAGAATAAGATTAACCCATTGTGTTTTAGGAGTTTAAATAAAGACCGAGTTGTATTCAGACTCATTTGTAAGTAAAATTTCAAGGAACACTTAAGTAATTTTTTATTCTTTAATTTTTTATTCCTCTTAGAAAAAGTTATCTTGGTTAGCCAGGCGTGATGGCACATGCCTGTGGTCCCAGTTACTTGTGA... | ATCTCAGCAGAAGCCAAGTGACAGGGAAGTAGATGAGAGGAGGTAATTATCCATCCAAGATGATTTATTCATCAGCAAAATGATTCGCGAACTTGAACCATGGTTTTTAATGACTTGCTCTGTCTTTTTCAGAATAAGATTAACCCATTGTGTTTTAGGAGTTTAAATAAAGACCGAGTTGTATTCAGACTCATTTGTAAGTAAAATTTCAAGGAACACTTAAGTAATTTTTTATTCTTTAATTTTTTATTCCTCTTAGAAAAAGTTATCTTGGTTAGCCAGGCGTGATGGCACATGCCTGTGGTCCCAGTTACTTGTGA... |
Task1_train_14446 | Mutation context: Chromosome 10, Gene STN1 (STN1 subunit of CST complex). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cerebroretinal microangiopathy with calcifications and cysts 2 | TGGCTTATGAACATTGGTAATCTCTGGGGAATGGTCCTGAGGCAGGAGACAGGAAAATGGAGAATTTTCACTTTTTATATGAGTCTATAGTTGTGCTTTTAATATACTTTTTTGAATATATAATATATTCATGTTAAAAAACATTAAAGGATACACAGTAAAGTCTCCTTTCTGTCCCCTTCCTGTCCTATCCTCCGGTCCCCACCCCCGAGGGAGCTGCTGTTACCGGTTCTCTGTGTCTCCTCTCAGAGTTCTTTTATGCACATATTAGCAAATATGCACACATTCTCATTCCTCCTGGGTTTTCTCCCCTATAAAAA... | TGGCTTATGAACATTGGTAATCTCTGGGGAATGGTCCTGAGGCAGGAGACAGGAAAATGGAGAATTTTCACTTTTTATATGAGTCTATAGTTGTGCTTTTAATATACTTTTTTGAATATATAATATATTCATGTTAAAAAACATTAAAGGATACACAGTAAAGTCTCCTTTCTGTCCCCTTCCTGTCCTATCCTCCGGTCCCCACCCCCGAGGGAGCTGCTGTTACCGGTTCTCTGTGTCTCCTCTCAGAGTTCTTTTATGCACATATTAGCAAATATGCACACATTCTCATTCCTCCTGGGTTTTCTCCCCTATAAAAA... |
Task1_train_14447 | Here’s a variant in COL17A1 (collagen type XVII alpha 1 chain) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ATGAGGCTCTGGGAGCAAAAGCAGACCCACAGGAGGAAGGTGCCAGGTGCAGGGCGTGGGGAAGGGCTTACTCCGTAAGTAGCTCACAACGTGGCTTGCCAGCTCTGAGTAGTCGAAAGTCTCGCCTGTGATGGTGGTGACAGGTCCTGGGGGACCAGGTGGGCCTGGGGGACCCTGAACTCCGGATAGGTAAGATCTAATACTGTCACCTGCCGACCAAGGAACAAAGCAAAGTCAAGCCTGTCCCAAGAGGACATGTTCTCCCCACGGAGGTGACCTGAAGCACATGATAACATGCCTGCCCCGCCCCACACATGGGC... | ATGAGGCTCTGGGAGCAAAAGCAGACCCACAGGAGGAAGGTGCCAGGTGCAGGGCGTGGGGAAGGGCTTACTCCGTAAGTAGCTCACAACGTGGCTTGCCAGCTCTGAGTAGTCGAAAGTCTCGCCTGTGATGGTGGTGACAGGTCCTGGGGGACCAGGTGGGCCTGGGGGACCCTGAACTCCGGATAGGTAAGATCTAATACTGTCACCTGCCGACCAAGGAACAAAGCAAAGTCAAGCCTGTCCCAAGAGGACATGTTCTCCCCACGGAGGTGACCTGAAGCACATGATAACATGCCTGCCCCGCCCCACACATGGGC... |
Task1_train_14448 | This mutation is located in gene COL17A1 (collagen type XVII alpha 1 chain) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Junctional epidermolysis bullosa | TTTGTCACCTTTGGGTCCCTGGGGGCCAGGTGGGCCTGGTGGTCCCTGAAGGTTGAGTCCGAAAGAACTGGACCCTGGAAGCCAACAACACACACAGTGCAGTCAGCCAGGGTTTGGAGAGGCTCTGGCCAGAGCCAGAATGGGGCGGGGTTCAGCCCTTACCTGAGGTTGAGAAACCTGGGAGGCCTTGCTCGCCTGAGGAACACACCAAGGGAGGGACAGTCAGCCTCACTTTTCTCACCCACTAACAGCCCTGTAGAGCCTCCCCAAGATCCATGATTGCTGGGGCTGCGTTGCCCTTTGGGCAGTACCTAGAGATG... | TTTGTCACCTTTGGGTCCCTGGGGGCCAGGTGGGCCTGGTGGTCCCTGAAGGTTGAGTCCGAAAGAACTGGACCCTGGAAGCCAACAACACACACAGTGCAGTCAGCCAGGGTTTGGAGAGGCTCTGGCCAGAGCCAGAATGGGGCGGGGTTCAGCCCTTACCTGAGGTTGAGAAACCTGGGAGGCCTTGCTCGCCTGAGGAACACACCAAGGGAGGGACAGTCAGCCTCACTTTTCTCACCCACTAACAGCCCTGTAGAGCCTCCCCAAGATCCATGATTGCTGGGGCTGCGTTGCCCTTTGGGCAGTACCTAGAGATG... |
Task1_train_14449 | The gene COL17A1 (collagen type XVII alpha 1 chain) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AAAAGTCAAAGGATGCTTTCCATGGACTCCTTCCCAAGTCCTTTTTAAGTCATTTTGGCCCAGGTTCCTTGCCTCTGCTGATGAACAGGCATTAGAACACATTGTCGAGTCTTGGCAGAGGCACTGGCCACAGCTCAAGATTCTCAAGACAGCAGGACAAGCTCTGTGGCCATAGGGGACAAGAGAGAGGCAGGTGCTTGCTCAGATGGAGGCAGGATGGGGACTTCCATTGCTGAAGCTGCTGGAGGGTCTCAAGCCCTAAGCCAGGTCAGAAGGGATCTGGACAGGACATATCAGGGAGCCCAACCTCTGCCACAGGA... | AAAAGTCAAAGGATGCTTTCCATGGACTCCTTCCCAAGTCCTTTTTAAGTCATTTTGGCCCAGGTTCCTTGCCTCTGCTGATGAACAGGCATTAGAACACATTGTCGAGTCTTGGCAGAGGCACTGGCCACAGCTCAAGATTCTCAAGACAGCAGGACAAGCTCTGTGGCCATAGGGGACAAGAGAGAGGCAGGTGCTTGCTCAGATGGAGGCAGGATGGGGACTTCCATTGCTGAAGCTGCTGGAGGGTCTCAAGCCCTAAGCCAGGTCAGAAGGGATCTGGACAGGACATATCAGGGAGCCCAACCTCTGCCACAGGA... |
Task1_train_14450 | An alteration has been detected in COL17A1 (collagen type XVII alpha 1 chain) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Epidermolysis bullosa, junctional 4, intermediate | AAGGATGCTTTCCATGGACTCCTTCCCAAGTCCTTTTTAAGTCATTTTGGCCCAGGTTCCTTGCCTCTGCTGATGAACAGGCATTAGAACACATTGTCGAGTCTTGGCAGAGGCACTGGCCACAGCTCAAGATTCTCAAGACAGCAGGACAAGCTCTGTGGCCATAGGGGACAAGAGAGAGGCAGGTGCTTGCTCAGATGGAGGCAGGATGGGGACTTCCATTGCTGAAGCTGCTGGAGGGTCTCAAGCCCTAAGCCAGGTCAGAAGGGATCTGGACAGGACATATCAGGGAGCCCAACCTCTGCCACAGGAGACACACA... | AAGGATGCTTTCCATGGACTCCTTCCCAAGTCCTTTTTAAGTCATTTTGGCCCAGGTTCCTTGCCTCTGCTGATGAACAGGCATTAGAACACATTGTCGAGTCTTGGCAGAGGCACTGGCCACAGCTCAAGATTCTCAAGACAGCAGGACAAGCTCTGTGGCCATAGGGGACAAGAGAGAGGCAGGTGCTTGCTCAGATGGAGGCAGGATGGGGACTTCCATTGCTGAAGCTGCTGGAGGGTCTCAAGCCCTAAGCCAGGTCAGAAGGGATCTGGACAGGACATATCAGGGAGCCCAACCTCTGCCACAGGAGACACACA... |
Task1_train_14451 | Consider a variant on Chromosome 10 in gene CFAP43 (cilia and flagella associated protein 43). Determine its clinical classification and disease relevance. | Pathogenic; Spermatogenic failure 19 | CATTTTTTTTTTTTTGCTGTTGTATGCAGTGTTCATTTACTGTACATCTTCTACAATGTGTCATTCTCCACCTATTACTACTGCTCTTTATTTTTGTTGCATCATAGACCTTCCCACCTGGGATCATTTTCCTCTGCCTGAAGTAAATTCTTTAGAATTTTCTCTAGTGATAGTCAGCTGCTGACACACTCTTAGCTTTGGAGTGTCTAAAATGTCTTTTTTCACCCGCATACTGAAAAGATGTTTTCATTGGGTATAGAATTCTAGGTGGTAATTATTTTCTTTCATTACATCAGGGGTCATCAAACTTTTTCTATAAA... | CATTTTTTTTTTTTTGCTGTTGTATGCAGTGTTCATTTACTGTACATCTTCTACAATGTGTCATTCTCCACCTATTACTACTGCTCTTTATTTTTGTTGCATCATAGACCTTCCCACCTGGGATCATTTTCCTCTGCCTGAAGTAAATTCTTTAGAATTTTCTCTAGTGATAGTCAGCTGCTGACACACTCTTAGCTTTGGAGTGTCTAAAATGTCTTTTTTCACCCGCATACTGAAAAGATGTTTTCATTGGGTATAGAATTCTAGGTGGTAATTATTTTCTTTCATTACATCAGGGGTCATCAAACTTTTTCTATAAA... |
Task1_train_14452 | Here is a mutation in CFAP43 (cilia and flagella associated protein 43) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Spermatogenic failure 19 | TTGATGTACCCATTTTACAGAGGAAGAAACTAAGGCTCAGCCTTTCTAAGATCACACAGCTAGTAATTTGTGGAGCCAGGATTCAGGTCTAAGTCTGTTACACTAACACATTTGTGCTCATTCCACTTCACTGCTTTTTTAATATTTACAGATTGCTCTTAGTAAGGACAATTGGAGCCTTCTGCTTTTGGAACTATCAGAATTTATGCACTTGTCATCTCTTCCCAGCTGCTTCCTATCCTGTGTATCCAGAGCTGTGAGATAATACATTTCTGTTATTCGAGACACTCAGTTTGTGATACTTTGTTACAGAAGCCCTA... | TTGATGTACCCATTTTACAGAGGAAGAAACTAAGGCTCAGCCTTTCTAAGATCACACAGCTAGTAATTTGTGGAGCCAGGATTCAGGTCTAAGTCTGTTACACTAACACATTTGTGCTCATTCCACTTCACTGCTTTTTTAATATTTACAGATTGCTCTTAGTAAGGACAATTGGAGCCTTCTGCTTTTGGAACTATCAGAATTTATGCACTTGTCATCTCTTCCCAGCTGCTTCCTATCCTGTGTATCCAGAGCTGTGAGATAATACATTTCTGTTATTCGAGACACTCAGTTTGTGATACTTTGTTACAGAAGCCCTA... |
Task1_train_14453 | A genetic alteration is present in CFAP43 (cilia and flagella associated protein 43) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spermatogenic failure 19 | GAAATATATTTATAATAACCAGGCTTTCCATCCAGGAATATATTTCTATATATTTAAATATTTTAAATCAATGATTTTTGTAGTTTTCTTCCCCTAGGTCACTCACACTTTTTTTTGAATTATTTCTAAGTATGTATATGTTCTAATTGTATGGGTACTTATTTCAAAACCAGCATCTTACTGAGCATTCTTTTGTTAGTCCTAGCAGACTATCGCATTATCCATCATCCCCTTTCCCATAGCTATATTTTTTTCAGTTTTATATTTTGTTGCATTGGCTAGAACTTCCAGGTTGATATTAAATAATAGTGATAACAGGT... | GAAATATATTTATAATAACCAGGCTTTCCATCCAGGAATATATTTCTATATATTTAAATATTTTAAATCAATGATTTTTGTAGTTTTCTTCCCCTAGGTCACTCACACTTTTTTTTGAATTATTTCTAAGTATGTATATGTTCTAATTGTATGGGTACTTATTTCAAAACCAGCATCTTACTGAGCATTCTTTTGTTAGTCCTAGCAGACTATCGCATTATCCATCATCCCCTTTCCCATAGCTATATTTTTTTCAGTTTTATATTTTGTTGCATTGGCTAGAACTTCCAGGTTGATATTAAATAATAGTGATAACAGGT... |
Task1_train_14454 | Given this context: Chromosome 10, gene MXI1 (MAX interactor 1, dimerization protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurofibrosarcoma | GATCAACGTGCAGCGTCTGCTGGAGGCTGCCGAGTTTTTGGAGCGCCGGGAGCGAGGTAATGGCTGGGCGCCGCTGCGTGAGCCCGAGCGCTACTAATCTTTTTCGGCAGTGCGGTGCGGCCGGTAAGGGAGGGCACGCGTGTGAGGTGCGCGCATGAGGTGAGGTGTGCGCGCATGTGAGGGGAGGGGTGTGCGCGCGTGAGGGTAGAGGAGCGCGCGTGTGTGGGGAGGGGCGTGTGGGGAGGGGAGCGCGCGTGAGGGGAGGGGCGTGTGAGGGAGGGGTGCGCACGCGTGAGGGGAGCGCGCGTGTGAGGGGAGGG... | GATCAACGTGCAGCGTCTGCTGGAGGCTGCCGAGTTTTTGGAGCGCCGGGAGCGAGGTAATGGCTGGGCGCCGCTGCGTGAGCCCGAGCGCTACTAATCTTTTTCGGCAGTGCGGTGCGGCCGGTAAGGGAGGGCACGCGTGTGAGGTGCGCGCATGAGGTGAGGTGTGCGCGCATGTGAGGGGAGGGGTGTGCGCGCGTGAGGGTAGAGGAGCGCGCGTGTGTGGGGAGGGGCGTGTGGGGAGGGGAGCGCGCGTGAGGGGAGGGGCGTGTGAGGGAGGGGTGCGCACGCGTGAGGGGAGCGCGCGTGTGAGGGGAGGG... |
Task1_train_14455 | The following genetic variant occurs in MXI1 (MAX interactor 1, dimerization protein) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Malignant tumor of prostate | AAAACCATTTTAGTCCTCTTTCAGAAGAGAATGGAGGGTGTGTGTTTTGTTCTTGATGCAGTTAAGACAGTTACCAAAAGTTCAATTATAGGTCTTTAAGGACTAGGGGTAAACTGTGAACGTATTTGTGGATTTTCTTTTCAGATATGCTGTTAACTGCTGAATTACCTTACCCCTTATGAAACACAGGACCAAAGATGTGGACTAGTATTGTTTTAGGATGAAGTTAAATACTCAGAACTCTCTCATCACCATGATCATAGTTCTTTTAGGGCACAGGGAAGGTAAATCCATGAGGTTCTCTGCTAGCATTTCTAGGA... | AAAACCATTTTAGTCCTCTTTCAGAAGAGAATGGAGGGTGTGTGTTTTGTTCTTGATGCAGTTAAGACAGTTACCAAAAGTTCAATTATAGGTCTTTAAGGACTAGGGGTAAACTGTGAACGTATTTGTGGATTTTCTTTTCAGATATGCTGTTAACTGCTGAATTACCTTACCCCTTATGAAACACAGGACCAAAGATGTGGACTAGTATTGTTTTAGGATGAAGTTAAATACTCAGAACTCTCTCATCACCATGATCATAGTTCTTTTAGGGCACAGGGAAGGTAAATCCATGAGGTTCTCTGCTAGCATTTCTAGGA... |
Task1_train_14456 | A genomic change on Chromosome 10 affects SMC3 (structural maintenance of chromosomes 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cornelia de Lange syndrome 3 | TGAGAACACTTTAAGGATTTAAAATGATTATTTTAGAACGTTAGCAATATATGAATCTTTAAATTGTTAAACATATATAGTTAAAATAGAATTATATATCCATTGTAATATGATATAAGAGCCAGGTAGTATATTTAGCTATTCCTATTCATTTTAAACTATTGGGTAAGAGCAAACGGATCAACTGTGAAATATCTTTAAAGAAAAAACTATTAGAAGTCTGTACAAAAATTGAATTTATTTGGTGATTATAGTTGTTTTATTGGTTTCTTTTGTTCACTGTTTAATTTCAGATGTTAAGATGTATTAGAAAATTGGAT... | TGAGAACACTTTAAGGATTTAAAATGATTATTTTAGAACGTTAGCAATATATGAATCTTTAAATTGTTAAACATATATAGTTAAAATAGAATTATATATCCATTGTAATATGATATAAGAGCCAGGTAGTATATTTAGCTATTCCTATTCATTTTAAACTATTGGGTAAGAGCAAACGGATCAACTGTGAAATATCTTTAAAGAAAAAACTATTAGAAGTCTGTACAAAAATTGAATTTATTTGGTGATTATAGTTGTTTTATTGGTTTCTTTTGTTCACTGTTTAATTTCAGATGTTAAGATGTATTAGAAAATTGGAT... |
Task1_train_14457 | A genetic alteration is present in SMC3 (structural maintenance of chromosomes 3) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cornelia de Lange syndrome 3 | TGTTAACTCTTTTATGGTTTCAGATACCACTGAGTCCCAAATTCCTTATGTGTAGAATTAAAGGGTTTAATTATCCAAGATGTTAAAAGTCATTCTGATTATCCAAGATTTTTTGAGACAGAGTCTCGCTGTGTCACCAGGTTGGAGTGCAGTGACACAATCTCAGCTCACTGCAACCTCCCCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCCAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACGATGTTGCCCAGGATGGTCTCCATC... | TGTTAACTCTTTTATGGTTTCAGATACCACTGAGTCCCAAATTCCTTATGTGTAGAATTAAAGGGTTTAATTATCCAAGATGTTAAAAGTCATTCTGATTATCCAAGATTTTTTGAGACAGAGTCTCGCTGTGTCACCAGGTTGGAGTGCAGTGACACAATCTCAGCTCACTGCAACCTCCCCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCCAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACGATGTTGCCCAGGATGGTCTCCATC... |
Task1_train_14458 | This sequence change occurs on Chromosome 10, altering SMC3 (structural maintenance of chromosomes 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cornelia de Lange syndrome 3 | ACCATAAGTTTGAAGTACTGATACATGTAAACAATATTTTGACATCTGACAAGTGTTACCTAATATGAAAATAGCTCTTCTTTTGGTAGTCACAGATACTAATACTACTACTGTGGTTCTTGTCGTGTTCGTTATAGAAGGGAAATGCTAAATCTCATTTTGAGGTTAATAAAAATAAAGATGTAAATTTTTTTCCTACTCAGATCACAGATCTTCTGAATTTTATCTTTGAAATCCAGGTTAAGAACCTCCAGTATATAGGTTTAGTTTACCTGCCCTCAATTTTTTTTTTCCTCTTTATTTGTTGAAGAAAGCAGGTA... | ACCATAAGTTTGAAGTACTGATACATGTAAACAATATTTTGACATCTGACAAGTGTTACCTAATATGAAAATAGCTCTTCTTTTGGTAGTCACAGATACTAATACTACTACTGTGGTTCTTGTCGTGTTCGTTATAGAAGGGAAATGCTAAATCTCATTTTGAGGTTAATAAAAATAAAGATGTAAATTTTTTTCCTACTCAGATCACAGATCTTCTGAATTTTATCTTTGAAATCCAGGTTAAGAACCTCCAGTATATAGGTTTAGTTTACCTGCCCTCAATTTTTTTTTTCCTCTTTATTTGTTGAAGAAAGCAGGTA... |
Task1_train_14459 | Gene SMC3 (structural maintenance of chromosomes 3), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cornelia de Lange syndrome 3 | GACAAGTGTTACCTAATATGAAAATAGCTCTTCTTTTGGTAGTCACAGATACTAATACTACTACTGTGGTTCTTGTCGTGTTCGTTATAGAAGGGAAATGCTAAATCTCATTTTGAGGTTAATAAAAATAAAGATGTAAATTTTTTTCCTACTCAGATCACAGATCTTCTGAATTTTATCTTTGAAATCCAGGTTAAGAACCTCCAGTATATAGGTTTAGTTTACCTGCCCTCAATTTTTTTTTTCCTCTTTATTTGTTGAAGAAAGCAGGTAAACCCATCTCCCCCCAAGCTTTGTTTCTGTATATGTACGTTTTGTTG... | GACAAGTGTTACCTAATATGAAAATAGCTCTTCTTTTGGTAGTCACAGATACTAATACTACTACTGTGGTTCTTGTCGTGTTCGTTATAGAAGGGAAATGCTAAATCTCATTTTGAGGTTAATAAAAATAAAGATGTAAATTTTTTTCCTACTCAGATCACAGATCTTCTGAATTTTATCTTTGAAATCCAGGTTAAGAACCTCCAGTATATAGGTTTAGTTTACCTGCCCTCAATTTTTTTTTTCCTCTTTATTTGTTGAAGAAAGCAGGTAAACCCATCTCCCCCCAAGCTTTGTTTCTGTATATGTACGTTTTGTTG... |
Task1_train_14460 | Here is a mutation in SMC3 (structural maintenance of chromosomes 3) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | TGGAGTCTACCAGAGAGTCATTGAAAGCAGAACTGGGAACTGATTTGCTTTCTCAACTGAGTTTGGAAGATCAGAAGAGAGTAGATGCACTGAATGATGAGATTCGTCAACTTCAGCAGGTAAGTAGACAGCTGACTGGAAAAAGAATTCGTTAGTAATTGGCTATTGTGAAAAGGGCCTTTCTTGCTAACTAGGGCAATATGAAAGAAAAGAACTGAGAAAATATTAAAATGAGGCTTGGACTTTTAATATACATAGGAGTAAATAAGATTTTGTTTTTCTAAACCAATCTAGCTAGGTTAGGATTATACAAGAAATTT... | TGGAGTCTACCAGAGAGTCATTGAAAGCAGAACTGGGAACTGATTTGCTTTCTCAACTGAGTTTGGAAGATCAGAAGAGAGTAGATGCACTGAATGATGAGATTCGTCAACTTCAGCAGGTAAGTAGACAGCTGACTGGAAAAAGAATTCGTTAGTAATTGGCTATTGTGAAAAGGGCCTTTCTTGCTAACTAGGGCAATATGAAAGAAAAGAACTGAGAAAATATTAAAATGAGGCTTGGACTTTTAATATACATAGGAGTAAATAAGATTTTGTTTTTCTAAACCAATCTAGCTAGGTTAGGATTATACAAGAAATTT... |
Task1_train_14461 | Here’s a variant in RBM20 (RNA binding motif protein 20) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dilated cardiomyopathy 1DD | CTTTTGTCTTCCCCACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCC... | CTTTTGTCTTCCCCACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCC... |
Task1_train_14462 | A mutation found in RBM20 (RNA binding motif protein 20) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | CTTTTGTCTTCCCCACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCC... | CTTTTGTCTTCCCCACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCC... |
Task1_train_14463 | The gene RBM20 (RNA binding motif protein 20), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiovascular phenotype | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... |
Task1_train_14464 | This gene mutation involves RBM20 (RNA binding motif protein 20) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; RBM20-related disorder | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... |
Task1_train_14465 | This variant impacts the gene RBM20 (RNA binding motif protein 20) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Primary dilated cardiomyopathy | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... |
Task1_train_14466 | Gene RBM20 (RNA binding motif protein 20) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Dilated cardiomyopathy 1A | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... |
Task1_train_14467 | This variant affects the gene RBM20 (RNA binding motif protein 20) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dilated cardiomyopathy 1DD | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... | CACACAAGGTATTTTTTCCCTTTTGGTGGACCAGGCAATGAATGACCCAGGTCAGAGCTGCTTCCCTCAGGTGTTTGCAAGGCCATCTCTGATCTGATGGTGATCTCTCTGACTTTGCTAGAAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAAGCCCCAAGTCTCCAGGCAGGTTCTGGGCAGTGGGAACAGACTCCTGTTTCTCATTCTTAGGGGCATTTGAGTCATGCTGTGCCCTGTTCTTGCCCCTACCCCATCCA... |
Task1_train_14468 | This genomic variant is located on Chromosome 10, within the BBIP1 (BBSome interacting protein 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14469 | Here is a mutation in BBIP1 (BBSome interacting protein 1) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Narrow forehead | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14470 | This mutation is located in gene BBIP1 (BBSome interacting protein 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Round face | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14471 | This variant affects the gene BBIP1 (BBSome interacting protein 1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Specific learning disability | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14472 | Gene BBIP1 (BBSome interacting protein 1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Flat nasal alae | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14473 | Given this context: Chromosome 10, gene BBIP1 (BBSome interacting protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Postaxial hand polydactyly | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14474 | Consider a variant on Chromosome 10 in gene BBIP1 (BBSome interacting protein 1). Determine its clinical classification and disease relevance. | Pathogenic; Micropenis | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14475 | This mutation occurs in BBIP1 (BBSome interacting protein 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Rod-cone dystrophy | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14476 | This mutation is located in gene BBIP1 (BBSome interacting protein 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Obesity | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14477 | An alteration has been detected in BBIP1 (BBSome interacting protein 1) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Downslanted palpebral fissures | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... | GTTTCTTAAAAATGAGATTTAAGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTTGGGAGTTCATGACCAGCTTGACCAACATGAAGAAACCCTGTCTCTATTAAAAATACAAAAGTAGCCAGGCATGGTGGCGCATGCGTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCGAGATGGTGCCATTGCTCTCGTTTGGGCAACAAGAGTGAAACTCTTGTCTCAAAAAAAAAAAAAAAT... |
Task1_train_14478 | A variant found in Chromosome 10 affects SHOC2 (SHOC2 leucine rich repeat scaffold protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Noonan syndrome-like disorder with loose anagen hair 1 | TGCCTGTAACCCTTTAGCTATGCATATTTCCCATTATTCAGTTGTATGGTTTTAGTAAATGTACTTTCATATTGGCTTATCAGCATTATTTTCTGAATCAGTATCTCTAGAGTTTTTCTTAGTCTCTCTCCATCGCAGTGCAAAATAATTTTTTTCTTTTTTTTTGAAAGGGTTGAATAGTAATAGATAGAGCTCTCCTGGTGTGCTAGCAAATAATGATGTATTTGTTTAATTGTAGAATCTTATATACCAGTAAAGTTCATACTGTGCAGTTTCAAATTTACAGATTATTCATCCTCTACCCCAGTTCCTGTTATTTC... | TGCCTGTAACCCTTTAGCTATGCATATTTCCCATTATTCAGTTGTATGGTTTTAGTAAATGTACTTTCATATTGGCTTATCAGCATTATTTTCTGAATCAGTATCTCTAGAGTTTTTCTTAGTCTCTCTCCATCGCAGTGCAAAATAATTTTTTTCTTTTTTTTTGAAAGGGTTGAATAGTAATAGATAGAGCTCTCCTGGTGTGCTAGCAAATAATGATGTATTTGTTTAATTGTAGAATCTTATATACCAGTAAAGTTCATACTGTGCAGTTTCAAATTTACAGATTATTCATCCTCTACCCCAGTTCCTGTTATTTC... |
Task1_train_14479 | The gene ACSL5 (acyl-CoA synthetase long chain family member 5) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Diarrhea 13 | CTTGGAACATCATGTTGGCACTCAAAAAGTTTTGGATTTTGGAACATTTTGGATTTCAAACATTTGGATTAGAATAGTCAACCTGTAATATTAACTTTTGTCATGTTGGAAACATTTTTCCTGGTCTCATCATTTTTGCCCTGTGTATTGCCATATAAAAATTTCCAATGTTTTTATAGTCAAACTAAATAATCTTTTCTATTTGTAGGTTTTAAACTGCTTAGACAGGACTTCCTAACCCCCAATATTTCATAAGACTGTTTCACCCTTATTTTCTGGCAAACTTACCATTTTCCATTTTTTCCTTTTAAGTCTCAGTT... | CTTGGAACATCATGTTGGCACTCAAAAAGTTTTGGATTTTGGAACATTTTGGATTTCAAACATTTGGATTAGAATAGTCAACCTGTAATATTAACTTTTGTCATGTTGGAAACATTTTTCCTGGTCTCATCATTTTTGCCCTGTGTATTGCCATATAAAAATTTCCAATGTTTTTATAGTCAAACTAAATAATCTTTTCTATTTGTAGGTTTTAAACTGCTTAGACAGGACTTCCTAACCCCCAATATTTCATAAGACTGTTTCACCCTTATTTTCTGGCAAACTTACCATTTTCCATTTTTTCCTTTTAAGTCTCAGTT... |
Task1_train_14480 | The gene NHLRC2 (NHL repeat containing 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Fibrosis, neurodegeneration, and cerebral angiomatosis | ATTTTAAAAAGTTTTGGTGCAGAAGGTAGTTATATAGTAAGTACACTGTTATAAACAAGCAGGCCATCAACTGGGATTTGGGGAATGTTTTTTATTTTCTAGTCTTGTTTGTATTTACAGGGAGTGTATTTTATTCCCATGAGATTTGACCTCTGTGACTCATAACTAAAAAAACATATAATAAAATATTCAGGCTTTGTGTTTAACACAGTATGATTTTCTCCTGGACCCGATTATTGAGGACAGAATGCTAGAAATGACTGTTTTCTTGGTTTCTTTAGCAGTAAACTATAATCAGGAAGTCATAAACATAACTTTAT... | ATTTTAAAAAGTTTTGGTGCAGAAGGTAGTTATATAGTAAGTACACTGTTATAAACAAGCAGGCCATCAACTGGGATTTGGGGAATGTTTTTTATTTTCTAGTCTTGTTTGTATTTACAGGGAGTGTATTTTATTCCCATGAGATTTGACCTCTGTGACTCATAACTAAAAAAACATATAATAAAATATTCAGGCTTTGTGTTTAACACAGTATGATTTTCTCCTGGACCCGATTATTGAGGACAGAATGCTAGAAATGACTGTTTTCTTGGTTTCTTTAGCAGTAAACTATAATCAGGAAGTCATAAACATAACTTTAT... |
Task1_train_14481 | Here is a genetic alteration in NHLRC2 (NHL repeat containing 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fibrosis, neurodegeneration, and cerebral angiomatosis | TTGAGCTTGAATTCTCTAAATTTATATATTTAATCAAATTTTGAAAGTTGGGACATTACTCAGTTATTTTTTTCTGCCCCAATCTTATTTATTCACTTTTTCTGGGATTCCAGTATACTTATTTAGATATTTTGAAACTGTTCCACAGGTCCCTGAGGTTCTGTTTATTTTTTTTCAATCTTCTTTCTCTCTTTATGTTCTTTAGATTGGATTAATTTCTGTTGAGCTGTCTTCAGGTTCATTAACCTTTTCTTTGTCATGTCCTTTTTGCCAATGAGATCATCCAGTGAACTTGTGGTATTTTTCAGTTCTAACATTTT... | TTGAGCTTGAATTCTCTAAATTTATATATTTAATCAAATTTTGAAAGTTGGGACATTACTCAGTTATTTTTTTCTGCCCCAATCTTATTTATTCACTTTTTCTGGGATTCCAGTATACTTATTTAGATATTTTGAAACTGTTCCACAGGTCCCTGAGGTTCTGTTTATTTTTTTTCAATCTTCTTTCTCTCTTTATGTTCTTTAGATTGGATTAATTTCTGTTGAGCTGTCTTCAGGTTCATTAACCTTTTCTTTGTCATGTCCTTTTTGCCAATGAGATCATCCAGTGAACTTGTGGTATTTTTCAGTTCTAACATTTT... |
Task1_train_14482 | This variant affects gene NHLRC2 (NHL repeat containing 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Fibrosis, neurodegeneration, and cerebral angiomatosis | TCTAAATTTATATATTTAATCAAATTTTGAAAGTTGGGACATTACTCAGTTATTTTTTTCTGCCCCAATCTTATTTATTCACTTTTTCTGGGATTCCAGTATACTTATTTAGATATTTTGAAACTGTTCCACAGGTCCCTGAGGTTCTGTTTATTTTTTTTCAATCTTCTTTCTCTCTTTATGTTCTTTAGATTGGATTAATTTCTGTTGAGCTGTCTTCAGGTTCATTAACCTTTTCTTTGTCATGTCCTTTTTGCCAATGAGATCATCCAGTGAACTTGTGGTATTTTTCAGTTCTAACATTTTTAGTTACTTTTTAT... | TCTAAATTTATATATTTAATCAAATTTTGAAAGTTGGGACATTACTCAGTTATTTTTTTCTGCCCCAATCTTATTTATTCACTTTTTCTGGGATTCCAGTATACTTATTTAGATATTTTGAAACTGTTCCACAGGTCCCTGAGGTTCTGTTTATTTTTTTTCAATCTTCTTTCTCTCTTTATGTTCTTTAGATTGGATTAATTTCTGTTGAGCTGTCTTCAGGTTCATTAACCTTTTCTTTGTCATGTCCTTTTTGCCAATGAGATCATCCAGTGAACTTGTGGTATTTTTCAGTTCTAACATTTTTAGTTACTTTTTAT... |
Task1_train_14483 | Gene NHLRC2 (NHL repeat containing 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Fibrosis, neurodegeneration, and cerebral angiomatosis | ACCTTCCCACTCGAAATATATGTGGGTTCCAATTTTCTACATGTTCACCGTCACTTGTTATTTTTCATTTTTTAAAAATTCTAGCCATCCTACTGGATATGAAGTGGCATCTCATTGTGGTTTTGATATGCATTTCCCTTATGACTAATGATGTCAACCACCTTTTCCTGTGCTTATGGGCCATTTTTATATCTTTGAGAAGTGTCAGTATTCTTTGCCAAATTTTTAATTGGGTTGTCTTTTCTATAATACAGTTGTAAGAATCCTTTGTATATTCTAGGTACAAGTTCTTTATCAGATATATGATTTACAAATGATTT... | ACCTTCCCACTCGAAATATATGTGGGTTCCAATTTTCTACATGTTCACCGTCACTTGTTATTTTTCATTTTTTAAAAATTCTAGCCATCCTACTGGATATGAAGTGGCATCTCATTGTGGTTTTGATATGCATTTCCCTTATGACTAATGATGTCAACCACCTTTTCCTGTGCTTATGGGCCATTTTTATATCTTTGAGAAGTGTCAGTATTCTTTGCCAAATTTTTAATTGGGTTGTCTTTTCTATAATACAGTTGTAAGAATCCTTTGTATATTCTAGGTACAAGTTCTTTATCAGATATATGATTTACAAATGATTT... |
Task1_train_14484 | The variant affects gene PNLIP (pancreatic lipase), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pancreatic triacylglycerol lipase deficiency | CTTAGCCTCCCAAGTAGTCAGGATTATAGGCACCCACCACCACGCCCAGGTAATTTTTTTACTTTTGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTTAGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCAAGGCCAGCCTAAAATCATTTATACCGTATTTTTGCTGTATGTTTTTAGGTTTAGATATATTTGGATACACAACTAGTTACGTTGTGTTCCAGTTGCCTAGAGTACACAGAACAGTAACATGCTGTACAGATTTGTAGCCTAGGA... | CTTAGCCTCCCAAGTAGTCAGGATTATAGGCACCCACCACCACGCCCAGGTAATTTTTTTACTTTTGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTTAGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCAAGGCCAGCCTAAAATCATTTATACCGTATTTTTGCTGTATGTTTTTAGGTTTAGATATATTTGGATACACAACTAGTTACGTTGTGTTCCAGTTGCCTAGAGTACACAGAACAGTAACATGCTGTACAGATTTGTAGCCTAGGA... |
Task1_train_14485 | A variant was discovered on Chromosome 10, affecting VAX1 (ventral anterior homeobox 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Microphthalmia, syndromic 11 | GAGTTTCCGACGTAAATAATTTACAATAAAATTACTATTTTAAAAAAGTGTTTTTCGCTTGCTTCAGATGGATGAATACATTCTAGACACTGCGGCACCTCGCAGTCTGGGTCTGTGATTTTGGTTAAAATGTGGGTGGCCGTGGCTGTAGGGACGATCGCCGCTGCGCAGGGTAAGGAAAGAGGGTGTCGCGGTTCGTGTTCTGATTTGGGACCACTGAAACCCTAAGACTGGGGAGGCGAGGGGAGTGTCTTTCCTATCAATCACACAAGACGCTATCTGGACTCCGAGACTACTGCTAGAGGAGGCCCGACCACCCA... | GAGTTTCCGACGTAAATAATTTACAATAAAATTACTATTTTAAAAAAGTGTTTTTCGCTTGCTTCAGATGGATGAATACATTCTAGACACTGCGGCACCTCGCAGTCTGGGTCTGTGATTTTGGTTAAAATGTGGGTGGCCGTGGCTGTAGGGACGATCGCCGCTGCGCAGGGTAAGGAAAGAGGGTGTCGCGGTTCGTGTTCTGATTTGGGACCACTGAAACCCTAAGACTGGGGAGGCGAGGGGAGTGTCTTTCCTATCAATCACACAAGACGCTATCTGGACTCCGAGACTACTGCTAGAGGAGGCCCGACCACCCA... |
Task1_train_14486 | A change on Chromosome 10 affects gene KCNK18 (potassium two pore domain channel subfamily K member 18). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Migraine, with or without aura, susceptibility to, 13 | ACTGACGCTGCCATCAAATGGTACTTAGTGGAACCAGCCAGAGTGGCATGGAGTGCTCTGGAATGGATGCAAACTGATGAGACTCTTTGAGAGCCACAGCTCCCTCCCCTACACTTGGGACCCTGGTGAGGGTAGGCAACCTGAATGCCCACCTGCTCTTGGAGGGCAGAGCCTGAGGCCAAAGTTTGCCACAGGGAGCTGCACTTCTGGAGGAAGTTGGGGCTTAGCCAGCTGAGGAGTTGCCTTCAGATTAATTTACATAATTGGGCTGGGTTTTTCTGTATTAATCATCCTTTATGACATCAAAAATTAAACACAGG... | ACTGACGCTGCCATCAAATGGTACTTAGTGGAACCAGCCAGAGTGGCATGGAGTGCTCTGGAATGGATGCAAACTGATGAGACTCTTTGAGAGCCACAGCTCCCTCCCCTACACTTGGGACCCTGGTGAGGGTAGGCAACCTGAATGCCCACCTGCTCTTGGAGGGCAGAGCCTGAGGCCAAAGTTTGCCACAGGGAGCTGCACTTCTGGAGGAAGTTGGGGCTTAGCCAGCTGAGGAGTTGCCTTCAGATTAATTTACATAATTGGGCTGGGTTTTTCTGTATTAATCATCCTTTATGACATCAAAAATTAAACACAGG... |
Task1_train_14487 | This mutation is located in gene SLC18A2 (solute carrier family 18 member A2) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Brain dopamine-serotonin vesicular transport disease | CTGATAATGGTTAGGCCTTTCTGTTCAATGCGGAGGACAGGTTCAAGGCCACTGCTGCCACCACCAGCAGGGAATCACCCTGGGCACATCAGAACCTGGGGGATGCAGGTGTCCTCTATGGGGACAGCAATAAAACTTGGATAGGAGGCCGGACGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGCCCAGCCTGGCCAACATGTTGAAACTCAGTCTCTACTAAAAATACAAAAATTAACTAGGCGTGGTGGCGCATGCCTGTCGTCTCAGCTACT... | CTGATAATGGTTAGGCCTTTCTGTTCAATGCGGAGGACAGGTTCAAGGCCACTGCTGCCACCACCAGCAGGGAATCACCCTGGGCACATCAGAACCTGGGGGATGCAGGTGTCCTCTATGGGGACAGCAATAAAACTTGGATAGGAGGCCGGACGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGCCCAGCCTGGCCAACATGTTGAAACTCAGTCTCTACTAAAAATACAAAAATTAACTAGGCGTGGTGGCGCATGCCTGTCGTCTCAGCTACT... |
Task1_train_14488 | This variant impacts the gene EMX2 (empty spiracles homeobox 2) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Schizencephaly | ACCCCCTATTCGCCTCGCAGCAGCGGGATCCGTCCACCTTCTACCCCTGGCTCATCCACCGCTACCGATATCTGGGTCATCGCTTCCAAGGTACGTGCCACGTCGCGGAACTGCAGCGCGCCGCTCCCGCCGCATCCTTCACTGCCCCCGGCCTGCTCCGGGTGGGCGCTTGGCAAGGCCTGGGCGGAGGTTCCTCCGGCTCGCGGGCCAGCGCGCCCTGTTGGGAAACTAGGCGGCGCGGGGCCGGGCGTGGTGTCGATCCCCAGTCTCCGAAGCTACGACTGGTTTGGAGTGATGGCCTGCGGGCCGCTTGACCCTTT... | ACCCCCTATTCGCCTCGCAGCAGCGGGATCCGTCCACCTTCTACCCCTGGCTCATCCACCGCTACCGATATCTGGGTCATCGCTTCCAAGGTACGTGCCACGTCGCGGAACTGCAGCGCGCCGCTCCCGCCGCATCCTTCACTGCCCCCGGCCTGCTCCGGGTGGGCGCTTGGCAAGGCCTGGGCGGAGGTTCCTCCGGCTCGCGGGCCAGCGCGCCCTGTTGGGAAACTAGGCGGCGCGGGGCCGGGCGTGGTGTCGATCCCCAGTCTCCGAAGCTACGACTGGTTTGGAGTGATGGCCTGCGGGCCGCTTGACCCTTT... |
Task1_train_14489 | Chromosome 10 houses a mutation in gene PRDX3 (peroxiredoxin 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 32 | CTCATCAAAACCCTGAGATAAGTACAATTATTGTCCTCATTTTACAATGAGAAAATTGATCCAGAGAGGCTCTCCCTTAAGGCCTTCCTTGACAACCCCATCTAGAACACCTACAACTCCGCTTCAGCAGTTTCACTCCACATTATTTTCCTTCCAAACACTCTACTTTTACTACATGTATGAGGTGTTTCCCCTCTAGAATGTAAGAGCTTAAAAGCAGGGGTTTGTCCGTTGTTCGCTCTTGTGCCTGGAAAACAGCACCTGGTGCGGGGTAGGCACTCAAGGATTTACTGAAACAACGAGAAAATGTTTCCCTATCT... | CTCATCAAAACCCTGAGATAAGTACAATTATTGTCCTCATTTTACAATGAGAAAATTGATCCAGAGAGGCTCTCCCTTAAGGCCTTCCTTGACAACCCCATCTAGAACACCTACAACTCCGCTTCAGCAGTTTCACTCCACATTATTTTCCTTCCAAACACTCTACTTTTACTACATGTATGAGGTGTTTCCCCTCTAGAATGTAAGAGCTTAAAAGCAGGGGTTTGTCCGTTGTTCGCTCTTGTGCCTGGAAAACAGCACCTGGTGCGGGGTAGGCACTCAAGGATTTACTGAAACAACGAGAAAATGTTTCCCTATCT... |
Task1_train_14490 | Given a variant located on Chromosome 10 and affecting PRDX3 (peroxiredoxin 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Corneal dystrophy, punctiform and polychromatic pre-descemet | TCATTTTACAATGAGAAAATTGATCCAGAGAGGCTCTCCCTTAAGGCCTTCCTTGACAACCCCATCTAGAACACCTACAACTCCGCTTCAGCAGTTTCACTCCACATTATTTTCCTTCCAAACACTCTACTTTTACTACATGTATGAGGTGTTTCCCCTCTAGAATGTAAGAGCTTAAAAGCAGGGGTTTGTCCGTTGTTCGCTCTTGTGCCTGGAAAACAGCACCTGGTGCGGGGTAGGCACTCAAGGATTTACTGAAACAACGAGAAAATGTTTCCCTATCTGTCTTGCCCCTAAACCGAGTTCCTTGAGTGCGGAAC... | TCATTTTACAATGAGAAAATTGATCCAGAGAGGCTCTCCCTTAAGGCCTTCCTTGACAACCCCATCTAGAACACCTACAACTCCGCTTCAGCAGTTTCACTCCACATTATTTTCCTTCCAAACACTCTACTTTTACTACATGTATGAGGTGTTTCCCCTCTAGAATGTAAGAGCTTAAAAGCAGGGGTTTGTCCGTTGTTCGCTCTTGTGCCTGGAAAACAGCACCTGGTGCGGGGTAGGCACTCAAGGATTTACTGAAACAACGAGAAAATGTTTCCCTATCTGTCTTGCCCCTAAACCGAGTTCCTTGAGTGCGGAAC... |
Task1_train_14491 | This mutation occurs in PRDX3 (peroxiredoxin 3) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 32 | AAAAGTCTTTATCTTATAAGCCAGACTCAGCTTCTCTCTCTTGTTAATCTCAATATTAAAACGGGTACAGAGGTAACTGCAAAATTAGTGAGTTCTCATAGGGAAAGGGACCGTAGGAGAAAAATAGCCAGTACCCTTTCTCTGGCCATTGACAATTCTGAAAGACCTAGGCATTCGTTTGATAATCTCTTTAAAGTTTAAAAAAAAAAAAATGGTCTGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTTGAGAGGCCGAGGCAGGCAGATCACGAAGTCAAGAGTTTTGAGACCAGCCTGGCCAACACGAT... | AAAAGTCTTTATCTTATAAGCCAGACTCAGCTTCTCTCTCTTGTTAATCTCAATATTAAAACGGGTACAGAGGTAACTGCAAAATTAGTGAGTTCTCATAGGGAAAGGGACCGTAGGAGAAAAATAGCCAGTACCCTTTCTCTGGCCATTGACAATTCTGAAAGACCTAGGCATTCGTTTGATAATCTCTTTAAAGTTTAAAAAAAAAAAAATGGTCTGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTTGAGAGGCCGAGGCAGGCAGATCACGAAGTCAAGAGTTTTGAGACCAGCCTGGCCAACACGAT... |
Task1_train_14492 | Given this context: Chromosome 10, gene PRDX3 (peroxiredoxin 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CCTCATTTTAGTTATGGGAAAACTGGGGCTCAACAAGGTTAAATCAAATCAGTTGCCCAAAGTCACACAGCTATTAAGTAGCTGAGTTAAAAAAAAGAAAAACTCAAACCAAGGATTGTTTGGTTCCAGGGCTGAAGATGGTCACCATTCCAAGAGACTACCTCTTACCCTGCTAGTCCCCCCTTCTGCAGAGTCTGATGGCTTCAATGTCAGGTGTGTGTCCCCATGGAAGTGGCTCCCACATAGTTAGGGAGTATGGAGCAGTGTGGCCTCAAGACGCAGCCAGCCTTCTTCAGAAAGAGACCCAAGGTGGTGGAGGG... | CCTCATTTTAGTTATGGGAAAACTGGGGCTCAACAAGGTTAAATCAAATCAGTTGCCCAAAGTCACACAGCTATTAAGTAGCTGAGTTAAAAAAAAGAAAAACTCAAACCAAGGATTGTTTGGTTCCAGGGCTGAAGATGGTCACCATTCCAAGAGACTACCTCTTACCCTGCTAGTCCCCCCTTCTGCAGAGTCTGATGGCTTCAATGTCAGGTGTGTGTCCCCATGGAAGTGGCTCCCACATAGTTAGGGAGTATGGAGCAGTGTGGCCTCAAGACGCAGCCAGCCTTCTTCAGAAAGAGACCCAAGGTGGTGGAGGG... |
Task1_train_14493 | The gene BAG3 (BAG cochaperone 3) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Dilated cardiomyopathy 1HH | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... |
Task1_train_14494 | Gene BAG3 (BAG cochaperone 3) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Myofibrillar myopathy 6 | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... |
Task1_train_14495 | Given this variant in gene BAG3 (BAG cochaperone 3) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Dilated cardiomyopathy 1HH | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... |
Task1_train_14496 | This alteration occurs within gene BAG3 (BAG cochaperone 3) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Myofibrillar myopathy 6 | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... |
Task1_train_14497 | This variant affects gene BAG3 (BAG cochaperone 3) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Myofibrillar myopathy 6 | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... |
Task1_train_14498 | Gene BAG3 (BAG cochaperone 3) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Peripheral neuropathy | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... |
Task1_train_14499 | Consider this mutation in BAG3 (BAG cochaperone 3) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiovascular phenotype | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... | CAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGT... |
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